Background: Both increases and decreases in the incidence of subsequent malignancies in melanoma patients have been reported. We examined the database of the Indiana University Cancer Center to determine whether there...Background: Both increases and decreases in the incidence of subsequent malignancies in melanoma patients have been reported. We examined the database of the Indiana University Cancer Center to determine whether there is an association between malignant melanoma and noncutaneous malignancies. Objective: We searched for evidence of noncutaneous malignancies in a cohort of melanoma patients. Methods: Patients with microscopically confirmed malignant melanoma diagnosed between January 1987 and March 2001 were analyzed. This cohort was investigated for noncutaneous malignancies occurring either before or after the diagnosis of melanoma. The standardized incidence ratios (SIR) were calculated as the ratio of the observed to the expected number of patients with second malignancies, and 95% confidence intervals (95% CI) around the SIR were estimated from the cumulative Poisson distribution. Results: A total of 955 patients with melanoma (498 males and 457 females) were documented over the 14-year period. Sixty-nine noncutaneous malignancies were identified in 59 (6.2% ) melanoma patients (39 males and 20 females). There was a higher risk of non-Hodgkin’ s lymphoma (SIR= 1.91;95% CI, 0.88- 3.62) in men and renal cell carcinoma (SIR = 2.41,95% CI, 0.97- 4.97) in men. In female patients, however, there was no higher risk of noncutaneous malignancies. Conclusions: This study did not show a higher risk of prostate cancer, gastrointestinal cancer, leukemia, endometrial cancer, or cancer of the nerve and neuroendocrine systems in melanoma patients. No female patients incurred a higher risk of noncutaneous cancers. The increased risk of non-Hodgkin’ s lymphoma and renal cell carcinoma in men might be attributed to a mutual carcinogenic exposure, an aberration of cell-mediated immunity, a shared genetic susceptibility, increased medical surveillance among cancer patients, a post-therapy effect after cancer management, or factors not as yet clear. Close monitoring of melanoma patients for signs of second malignancy is warranted.展开更多
Objective: To describe two cases of 5α - reductase deficiency and the identification of a novel frameshift mutation in this sibling pair. Design: Case report. Setting: An adolescent clinic at a university hospital. P...Objective: To describe two cases of 5α - reductase deficiency and the identification of a novel frameshift mutation in this sibling pair. Design: Case report. Setting: An adolescent clinic at a university hospital. Patient(s): A 14- year- old girl and her younger sister, who presented with primary amenorrhea, deepening of the voice, and clitoromegaly. Intervention(s): Deoxyribonucleic acid was extracted from peripheral blood, and 8 exons of the androgen receptor gene and 5 exons of the steroid 5α - reductase type 2 gene (encoded by SRD5A2 gene)- were amplified by polymerase chain reaction and subjected to sequence analyses. Main Outcome Measure(s): Genetic diagnosis of 5α - reductase deficiency. Result(s): There was no evidence of a genetic abnormality in the 8 screened exons of the androgen receptor gene, but exon 4 of the SRD5A2 gene showed a novel homozygous deletion of the thymine at nucleotide position c.655 (c.655delT), leading to a frameshift mutation predicted to result in an abnormally long protein with an extended termination signal. Conclusion(s): The molecular characterization of the mutation can be a relevant tool for a correct diagnosis of 5α - reductase deficiency.展开更多
文摘Background: Both increases and decreases in the incidence of subsequent malignancies in melanoma patients have been reported. We examined the database of the Indiana University Cancer Center to determine whether there is an association between malignant melanoma and noncutaneous malignancies. Objective: We searched for evidence of noncutaneous malignancies in a cohort of melanoma patients. Methods: Patients with microscopically confirmed malignant melanoma diagnosed between January 1987 and March 2001 were analyzed. This cohort was investigated for noncutaneous malignancies occurring either before or after the diagnosis of melanoma. The standardized incidence ratios (SIR) were calculated as the ratio of the observed to the expected number of patients with second malignancies, and 95% confidence intervals (95% CI) around the SIR were estimated from the cumulative Poisson distribution. Results: A total of 955 patients with melanoma (498 males and 457 females) were documented over the 14-year period. Sixty-nine noncutaneous malignancies were identified in 59 (6.2% ) melanoma patients (39 males and 20 females). There was a higher risk of non-Hodgkin’ s lymphoma (SIR= 1.91;95% CI, 0.88- 3.62) in men and renal cell carcinoma (SIR = 2.41,95% CI, 0.97- 4.97) in men. In female patients, however, there was no higher risk of noncutaneous malignancies. Conclusions: This study did not show a higher risk of prostate cancer, gastrointestinal cancer, leukemia, endometrial cancer, or cancer of the nerve and neuroendocrine systems in melanoma patients. No female patients incurred a higher risk of noncutaneous cancers. The increased risk of non-Hodgkin’ s lymphoma and renal cell carcinoma in men might be attributed to a mutual carcinogenic exposure, an aberration of cell-mediated immunity, a shared genetic susceptibility, increased medical surveillance among cancer patients, a post-therapy effect after cancer management, or factors not as yet clear. Close monitoring of melanoma patients for signs of second malignancy is warranted.
文摘Objective: To describe two cases of 5α - reductase deficiency and the identification of a novel frameshift mutation in this sibling pair. Design: Case report. Setting: An adolescent clinic at a university hospital. Patient(s): A 14- year- old girl and her younger sister, who presented with primary amenorrhea, deepening of the voice, and clitoromegaly. Intervention(s): Deoxyribonucleic acid was extracted from peripheral blood, and 8 exons of the androgen receptor gene and 5 exons of the steroid 5α - reductase type 2 gene (encoded by SRD5A2 gene)- were amplified by polymerase chain reaction and subjected to sequence analyses. Main Outcome Measure(s): Genetic diagnosis of 5α - reductase deficiency. Result(s): There was no evidence of a genetic abnormality in the 8 screened exons of the androgen receptor gene, but exon 4 of the SRD5A2 gene showed a novel homozygous deletion of the thymine at nucleotide position c.655 (c.655delT), leading to a frameshift mutation predicted to result in an abnormally long protein with an extended termination signal. Conclusion(s): The molecular characterization of the mutation can be a relevant tool for a correct diagnosis of 5α - reductase deficiency.
